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Protein

Thiamine transporter 1

Gene

SLC19A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

High-affinity transporter for the intake of thiamine.

GO - Molecular functioni

  • folic acid transporter activity Source: UniProtKB
  • thiamine transmembrane transporter activity Source: UniProtKB
  • thiamine uptake transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • thiamine-containing compound metabolic process Source: Reactome
  • thiamine transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117479-MONOMER.
ReactomeiR-HSA-196819. Vitamin B1 (thiamin) metabolism.
SABIO-RKO60779.

Protein family/group databases

TCDBi2.A.48.1.2. the reduced folate carrier (rfc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Thiamine transporter 1
Short name:
ThTr-1
Short name:
ThTr1
Alternative name(s):
Solute carrier family 19 member 2
Thiamine carrier 1
Short name:
TC1
Gene namesi
Name:SLC19A2
Synonyms:THT1, TRMA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:10938. SLC19A2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 28CytoplasmicSequence analysisAdd BLAST28
Transmembranei29 – 46HelicalSequence analysisAdd BLAST18
Topological domaini47 – 72ExtracellularSequence analysisAdd BLAST26
Transmembranei73 – 91HelicalSequence analysisAdd BLAST19
Topological domaini92 – 99CytoplasmicSequence analysis8
Transmembranei100 – 118HelicalSequence analysisAdd BLAST19
Topological domaini119 – 128ExtracellularSequence analysis10
Transmembranei129 – 149HelicalSequence analysisAdd BLAST21
Topological domaini150 – 165CytoplasmicSequence analysisAdd BLAST16
Transmembranei166 – 185HelicalSequence analysisAdd BLAST20
Topological domaini186 – 191ExtracellularSequence analysis6
Transmembranei192 – 208HelicalSequence analysisAdd BLAST17
Topological domaini209 – 285CytoplasmicSequence analysisAdd BLAST77
Transmembranei286 – 310HelicalSequence analysisAdd BLAST25
Topological domaini311 – 337ExtracellularSequence analysisAdd BLAST27
Transmembranei338 – 354HelicalSequence analysisAdd BLAST17
Topological domaini355 – 363CytoplasmicSequence analysis9
Transmembranei364 – 380HelicalSequence analysisAdd BLAST17
Topological domaini381 – 386ExtracellularSequence analysis6
Transmembranei387 – 409HelicalSequence analysisAdd BLAST23
Topological domaini410 – 419CytoplasmicSequence analysis10
Transmembranei420 – 443HelicalSequence analysisAdd BLAST24
Topological domaini444 – 455ExtracellularSequence analysisAdd BLAST12
Transmembranei456 – 479HelicalSequence analysisAdd BLAST24
Topological domaini480 – 497CytoplasmicSequence analysisAdd BLAST18

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • integral component of plasma membrane Source: GO_Central
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Thiamine-responsive megaloblastic anemia syndrome (TRMA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.
See also OMIM:249270
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01024993D → H in TRMA. 1 Publication1
Natural variantiVAR_010250143S → F in TRMA. 1 PublicationCorresponds to variant rs761957186dbSNPEnsembl.1
Natural variantiVAR_010248172G → D in TRMA. 1 PublicationCorresponds to variant rs28937595dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi10560.
MalaCardsiSLC19A2.
MIMi249270. phenotype.
OpenTargetsiENSG00000117479.
Orphaneti49827. Thiamine-responsive megaloblastic anemia syndrome.
PharmGKBiPA35825.

Chemistry databases

ChEMBLiCHEMBL3079.
DrugBankiDB00152. Thiamine.

Polymorphism and mutation databases

BioMutaiSLC19A2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001786631 – 497Thiamine transporter 1Add BLAST497

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Glycosylationi63N-linked (GlcNAc...)Sequence analysis1
Modified residuei222PhosphoserineCombined sources1
Glycosylationi314N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO60779.
PaxDbiO60779.
PeptideAtlasiO60779.
PRIDEiO60779.

PTM databases

iPTMnetiO60779.
PhosphoSitePlusiO60779.

Expressioni

Tissue specificityi

Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.

Gene expression databases

BgeeiENSG00000117479.
CleanExiHS_SLC19A2.
ExpressionAtlasiO60779. baseline and differential.
GenevisibleiO60779. HS.

Organism-specific databases

HPAiHPA006119.
HPA016599.

Interactioni

Protein-protein interaction databases

BioGridi115811. 30 interactors.
IntActiO60779. 1 interactor.
STRINGi9606.ENSP00000236137.

Chemistry databases

BindingDBiO60779.

Structurei

3D structure databases

ProteinModelPortaliO60779.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3810. Eukaryota.
ENOG410XT34. LUCA.
GeneTreeiENSGT00510000046382.
HOVERGENiHBG054198.
InParanoidiO60779.
KOiK14610.
OMAiVCYSSRP.
OrthoDBiEOG091G0BSJ.
PhylomeDBiO60779.
TreeFamiTF313684.

Family and domain databases

InterProiIPR002666. Folate_carrier.
IPR020846. MFS_dom.
IPR028338. ThTr-1.
[Graphical view]
PANTHERiPTHR10686. PTHR10686. 1 hit.
PfamiPF01770. Folate_carrier. 1 hit.
[Graphical view]
PIRSFiPIRSF028739. Folate_carrier. 1 hit.
PIRSF500794. Thiamine_transporter_1. 1 hit.
SUPFAMiSSF103473. SSF103473. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60779-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE
60 70 80 90 100
PFLTPYLLGP DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV
110 120 130 140 150
VLLQGLSLIV TWFMLLYAQG LLAIQFLEFF YGIATATEIA YYSYIYSVVD
160 170 180 190 200
LGMYQKVTSY CRSATLVGFT VGSVLGQILV SVAGWSLFSL NVISLTCVSV
210 220 230 240 250
AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD TPASNHLPGW
260 270 280 290 300
EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV
310 320 330 340 350
WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA
360 370 380 390 400
VGYIKISWST WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY
410 420 430 440 450
MLLITIATFQ IAANLSMERY ALVFGVNTFI ALALQTLLTL IVVDASGLGL
460 470 480 490
EITTQFLIYA SYFALIAVVF LASGAVSVMK KCRKLEDPQS SSQVTTS
Length:497
Mass (Da):55,400
Last modified:January 24, 2001 - v2
Checksum:i87A993E2B6FBFE96
GO
Isoform 2 (identifier: O60779-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     69-269: Missing.

Show »
Length:296
Mass (Da):32,858
Checksum:iA8C5CDFF6D54540C
GO

Sequence cautioni

The sequence BAG64936 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01024993D → H in TRMA. 1 Publication1
Natural variantiVAR_010250143S → F in TRMA. 1 PublicationCorresponds to variant rs761957186dbSNPEnsembl.1
Natural variantiVAR_010248172G → D in TRMA. 1 PublicationCorresponds to variant rs28937595dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03646769 – 269Missing in isoform 2. 1 PublicationAdd BLAST201

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF160812 mRNA. Translation: AAF15129.1.
AJ238413 Genomic DNA. Translation: CAB50771.1.
AJ237724 mRNA. Translation: CAB50770.1.
AF135488 mRNA. Translation: AAD45985.1.
AF158233 Genomic DNA. Translation: AAD51280.1. Sequence problems.
AF160186 Genomic DNA. Translation: AAD51283.1. Sequence problems.
AF160756 Genomic DNA. Translation: AAD54242.1.
AF153330 mRNA. Translation: AAD43534.1.
AF272359 mRNA. Translation: AAK54468.1.
AK304021 mRNA. Translation: BAG64936.1. Different initiation.
AK313779 mRNA. Translation: BAG36517.1.
AK316465 mRNA. Translation: BAH14836.1.
AL021068 Genomic DNA. Translation: CAI19780.1.
AL021068 Genomic DNA. Translation: CAI19782.1.
CH471067 Genomic DNA. Translation: EAW90843.1.
CH471067 Genomic DNA. Translation: EAW90846.1.
BC018514 mRNA. Translation: AAH18514.1.
CCDSiCCDS1280.1. [O60779-1]
CCDS81398.1. [O60779-2]
RefSeqiNP_001306596.1. NM_001319667.1. [O60779-2]
NP_008927.1. NM_006996.2. [O60779-1]
UniGeneiHs.30246.

Genome annotation databases

EnsembliENST00000236137; ENSP00000236137; ENSG00000117479. [O60779-1]
ENST00000367804; ENSP00000356778; ENSG00000117479. [O60779-2]
GeneIDi10560.
KEGGihsa:10560.
UCSCiuc001gge.5. human. [O60779-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF160812 mRNA. Translation: AAF15129.1.
AJ238413 Genomic DNA. Translation: CAB50771.1.
AJ237724 mRNA. Translation: CAB50770.1.
AF135488 mRNA. Translation: AAD45985.1.
AF158233 Genomic DNA. Translation: AAD51280.1. Sequence problems.
AF160186 Genomic DNA. Translation: AAD51283.1. Sequence problems.
AF160756 Genomic DNA. Translation: AAD54242.1.
AF153330 mRNA. Translation: AAD43534.1.
AF272359 mRNA. Translation: AAK54468.1.
AK304021 mRNA. Translation: BAG64936.1. Different initiation.
AK313779 mRNA. Translation: BAG36517.1.
AK316465 mRNA. Translation: BAH14836.1.
AL021068 Genomic DNA. Translation: CAI19780.1.
AL021068 Genomic DNA. Translation: CAI19782.1.
CH471067 Genomic DNA. Translation: EAW90843.1.
CH471067 Genomic DNA. Translation: EAW90846.1.
BC018514 mRNA. Translation: AAH18514.1.
CCDSiCCDS1280.1. [O60779-1]
CCDS81398.1. [O60779-2]
RefSeqiNP_001306596.1. NM_001319667.1. [O60779-2]
NP_008927.1. NM_006996.2. [O60779-1]
UniGeneiHs.30246.

3D structure databases

ProteinModelPortaliO60779.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115811. 30 interactors.
IntActiO60779. 1 interactor.
STRINGi9606.ENSP00000236137.

Chemistry databases

BindingDBiO60779.
ChEMBLiCHEMBL3079.
DrugBankiDB00152. Thiamine.

Protein family/group databases

TCDBi2.A.48.1.2. the reduced folate carrier (rfc) family.

PTM databases

iPTMnetiO60779.
PhosphoSitePlusiO60779.

Polymorphism and mutation databases

BioMutaiSLC19A2.

Proteomic databases

MaxQBiO60779.
PaxDbiO60779.
PeptideAtlasiO60779.
PRIDEiO60779.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000236137; ENSP00000236137; ENSG00000117479. [O60779-1]
ENST00000367804; ENSP00000356778; ENSG00000117479. [O60779-2]
GeneIDi10560.
KEGGihsa:10560.
UCSCiuc001gge.5. human. [O60779-1]

Organism-specific databases

CTDi10560.
DisGeNETi10560.
GeneCardsiSLC19A2.
GeneReviewsiSLC19A2.
HGNCiHGNC:10938. SLC19A2.
HPAiHPA006119.
HPA016599.
MalaCardsiSLC19A2.
MIMi249270. phenotype.
603941. gene.
neXtProtiNX_O60779.
OpenTargetsiENSG00000117479.
Orphaneti49827. Thiamine-responsive megaloblastic anemia syndrome.
PharmGKBiPA35825.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3810. Eukaryota.
ENOG410XT34. LUCA.
GeneTreeiENSGT00510000046382.
HOVERGENiHBG054198.
InParanoidiO60779.
KOiK14610.
OMAiVCYSSRP.
OrthoDBiEOG091G0BSJ.
PhylomeDBiO60779.
TreeFamiTF313684.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000117479-MONOMER.
ReactomeiR-HSA-196819. Vitamin B1 (thiamin) metabolism.
SABIO-RKO60779.

Miscellaneous databases

ChiTaRSiSLC19A2. human.
GeneWikiiSLC19A2.
GenomeRNAii10560.
PROiO60779.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117479.
CleanExiHS_SLC19A2.
ExpressionAtlasiO60779. baseline and differential.
GenevisibleiO60779. HS.

Family and domain databases

InterProiIPR002666. Folate_carrier.
IPR020846. MFS_dom.
IPR028338. ThTr-1.
[Graphical view]
PANTHERiPTHR10686. PTHR10686. 1 hit.
PfamiPF01770. Folate_carrier. 1 hit.
[Graphical view]
PIRSFiPIRSF028739. Folate_carrier. 1 hit.
PIRSF500794. Thiamine_transporter_1. 1 hit.
SUPFAMiSSF103473. SSF103473. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiS19A2_HUMAN
AccessioniPrimary (citable) accession number: O60779
Secondary accession number(s): B2R9H0
, B4E1X4, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 24, 2001
Last modified: November 2, 2016
This is version 154 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.